Holy Spirit introduced technology for faster and more accurate genetic analysis, samples do not have to go outside

KB Sveti Duh Mirta Sušec, mag.biol.exp., dr.sc. Maja Oroz, mag.biol.mol., Ph.D. Ana Mustapić, mag.biol.mol., prof.dr.sc. Edvard Galić, prim.dr.med., director of the “Sveti Duh” Clinical Hospital, prof.dr.sc. Feodora Stipoljev, mag.biol.mol. Head of the Laboratory Cytogenetics Department, Nives Marčina, mag.biol.exp.

This diagnostic approach enables the simultaneous analysis of 374 genes and 96 non-coding regions, including the detection of deletions and duplications. This ensures patients in Croatia top-quality diagnostics without the need to send samples abroad, they note.
“The introduction of NGS technology in the “Sveti Duh” Clinical Hospital represents an important step forward for Croatian public health and a strong shift towards personalized medicine. I would like to thank the professional team of the hospital for their dedication and excellent work that brings our patients faster, more accurate and more accessible genetic diagnostics. This is clear evidence that investment in knowledge and modern technologies is not only technical progress – it is an investment in a safer future for our patients and a stronger health system in Croatia”, said Minister of Health Irena Hrsti.
For patients and their families, this means a shorter path to diagnosis, less uncertainty and an earlier start of targeted therapy and rehabilitation. Precise genetic analysis enables an individualized approach to treatment and better quality genetic counseling. This is especially important because
are neurodevelopmental disorders – including disorders from the spectrum of autism, ADHD and learning difficulties – and occur in more than one child in a hundred of them.

The hospital also introduced an NGS panel for the most common types of fetal malformations (fetal hydrops) intended for the diagnosis of targeted genetic disorders in the prenatal and postnatal period. This made the hospital, as they say, the only health institution in the Republic of Croatia that currently implements NGS technology in prenatal diagnostics.

“The introduction of NGS technology is part of our strategic direction towards the continuous improvement of the quality of health care. The application of new technologies enables earlier diagnosis, more precise therapeutic decisions and better long-term treatment outcomes”, said the director, Prof. Dr.Sc. Edvard Gali, adding that this investment represents an investment in more precise medicine and a safer future for patients.

Prof. Ph.D.Sc. Feodora Stipoljev, head of the Department of Laboratory Cytogenetics at the Clinic for Gynecology and Obstetrics, emphasizes that genetic testing is key to establishing a final diagnosis and counseling the family. Sveti Duh Clinical Hospital is the only institution in Croatia that also performs Sanger sequencing for various types of hereditary disorders for the purpose of family testing of targeted mutations. “So far, we have analyzed more than 1,000 patients and discovered about 800 different mutations, which shows how important and necessary this diagnosis is,” she pointed out.